ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.2-23.1(chr2:28244046-30256324)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ALK | No evidence available | No evidence available |
GRCh38 GRCh37 |
5119 | 5159 | |
BABAM2 | - | - |
GRCh38 GRCh37 |
23 | 47 | |
CLIP4 | - | - | - |
GRCh38 GRCh37 |
39 | 68 |
FOSL2 | - | - |
GRCh38 GRCh37 |
20 | 42 | |
PCARE | - | - |
GRCh38 GRCh37 |
1075 | 1104 | |
PLB1 | - | - |
GRCh38 GRCh37 |
150 | 174 | |
PPP1CB | - | - |
GRCh38 GRCh37 |
250 | 279 | |
SPDYA | - | - |
GRCh38 GRCh37 |
11 | 40 | |
TOGARAM2 | - | - | - |
GRCh38 GRCh37 |
105 | 133 |
TRMT61B | - | - |
GRCh38 GRCh37 |
42 | 71 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986371.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024